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"We screened 9,858 probands from the Deciphering Developmental Disorders (DDD) study for de novo mutations in the 5' untranslated regions (5' UTRs) of genes within which variants have previously been shown to cause DD through a dominant haploinsufficient mechanism. We identified four single-nucleotide variants and two copy-number variants upstream of MEF2C in a total of ten individual probands. ... These non-coding region variants represent 23% of likely diagnoses identified in MEF2C in the DDD cohort, but these would all be missed in standard clinical genetics approaches. Nonetheless, these variants are readily detectable in exome sequence data, with 30.7% of 5' UTR bases across all genes well covered in the DDD dataset.Our analyses show that non-coding variants upstream of genes within which coding variants are known to cause DD are an important cause of severe disease and demonstrate that analyzing 5' UTRs can increase diagnostic yield."
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From internal helpdesk, sorry posting in German.
UTR Annotator -> Empfehlung Analyse 5'UTR bei Genen mit hohem PLI bzw. niederigem LOEUF Score,
anbei ein spannendes Paper zum Einfluss von 5'UTR Varianten bei dominanten Erkrankungen (Haploinsuffizienz).
Ich weiß nicht, ob ich das schon herumgeschickt hatte, aber ich denke es ist sinnvoll, den UTR-Annotator in die Exom-Pipeline zu integrieren:
https://github.com/ImperialCardioGenetics/UTRannotator
https://pubmed.ncbi.nlm.nih.gov/32926138/
https://pubmed.ncbi.nlm.nih.gov/34022131/
"We screened 9,858 probands from the Deciphering Developmental Disorders (DDD) study for de novo mutations in the 5' untranslated regions (5' UTRs) of genes within which variants have previously been shown to cause DD through a dominant haploinsufficient mechanism. We identified four single-nucleotide variants and two copy-number variants upstream of MEF2C in a total of ten individual probands. ... These non-coding region variants represent 23% of likely diagnoses identified in MEF2C in the DDD cohort, but these would all be missed in standard clinical genetics approaches. Nonetheless, these variants are readily detectable in exome sequence data, with 30.7% of 5' UTR bases across all genes well covered in the DDD dataset.Our analyses show that non-coding variants upstream of genes within which coding variants are known to cause DD are an important cause of severe disease and demonstrate that analyzing 5' UTRs can increase diagnostic yield."
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